Genetics of PHACE syndrome

Genetics of PHACE Syndrome and Evaluating Its Causes.  

What is PHACE Syndrome? 

PHACE Syndrome is  a rare medical condition that affects the brain and skin in babies and young kids. PHACE is named after the first letter of each feature that defines this condition. PHACE features can be different for every child and symptoms can range from mild to severe. 

The symptoms of PHACE syndrome include:

• Posterior fossa malformations – (issues with forming part of  the brain that controls balance and vision)  
• Hemangiomas – (red birthmarks that do not usually cause other problems) 
• Arterial anomalies – (abnormal blood vessel formation that can cause issues with blood flow)
• Cardiac defects – (heart development problems that make it not function as well as it should)
• Eye abnormalities –  (abnormal eye development that can cause vision problems)

Scientists think PHACE Syndrome happens due to a genetic difference present at birth. This genetic difference affects how blood vessels grow in the body. The BCOR gene has been found to be linked to this condition, but it’s not the only cause. More research is needed to figure out all the genes that cause PHACE. Doctors and experts are working together to find ways to help kids with this syndrome, but there isn’t a set treatment yet.

How was the research done?

Vanderbilt researchers want to learn more about PHACE. Using BioVU resources, the researchers are able to study a small set of PHACE patients. The DNA information from these patients is studied to find genetics related to PHACE. The researchers will figure out if the genetic traits could raise the risks for getting certain diseases. They will also look at a specific gene called BCOR to see if the PHACE Syndrome patients have a difference in that gene like other studies have found. The idea of the study is that poor function of the BCOR gene and a group of other genes cause PHACE Syndrome. By doing this research we can learn more about PHACE and its genetic causes. This may lead to new treatment and preventions. 

Who will this research benefit?

The research team found changes, known as genetic markers, in the BCOR gene of patients with PHACE Syndrome, which might be what’s causing their symptoms. These new genetic markers can help doctors better detect and treat people with PHACE Syndrome. This research can help doctors better understand PHACE Syndrome and how to better treat it.